Canonical Allele Identifier: CA349571321
Community Standard Title: NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563310C>A , CM000664.2:g.178563310C>A GRCh38
NC_000002.11:g.179428037C>A , CM000664.1:g.179428037C>A GRCh37
NC_000002.10:g.179136283C>A NCBI36
NG_011618.3:g.272493G>T , LRG_391:g.272493G>T
NG_051363.1:g.45484C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82822G>T (TTN) MANE Select NP_001254479.2:p.Glu27608Ter
ENST00000589042.5:c.82822G>T (TTN) MANE Select ENSP00000467141.1:p.Glu27608Ter
NM_001256850.1:c.77899G>T (TTN) NP_001243779.1:p.Glu25967Ter
NM_003319.4:c.55627G>T (TTN) NP_003310.4:p.Glu18543Ter
NM_133378.4:c.75118G>T (TTN) NP_596869.4:p.Glu25040Ter
NM_133432.3:c.56002G>T (TTN) NP_597676.3:p.Glu18668Ter
NM_133437.4:c.56203G>T (TTN) NP_597681.4:p.Glu18735Ter
NR_038271.1:n.447-7990C>A (TTN-AS1)
NR_038272.1:n.2044-19262C>A (TTN-AS1)
ENST00000342175.10:c.56203G>T (TTN) ENSP00000340554.6:p.Glu18735Ter
ENST00000342175.11:c.56203G>T (TTN) ENSP00000340554.6:p.Glu18735Ter
ENST00000342992.10:c.75118G>T (TTN) ENSP00000343764.6:p.Glu25040Ter
ENST00000342992.11:c.75118G>T (TTN) ENSP00000343764.6:p.Glu25040Ter
ENST00000359218.10:c.56002G>T (TTN) ENSP00000352154.5:p.Glu18668Ter
ENST00000359218.9:c.56002G>T (TTN) ENSP00000352154.5:p.Glu18668Ter
ENST00000460472.6:c.55627G>T (TTN) ENSP00000434586.1:p.Glu18543Ter
ENST00000591111.5:c.77899G>T (TTN) ENSP00000465570.1:p.Glu25967Ter
ENST00000615779.4:c.77899G>T (TTN) ENSP00000483597.1:p.Glu25967Ter
XM_011511729.1:c.81919G>T (TTN) XP_011510031.1:p.Glu27307Ter
XM_011511730.1:c.55813G>T (TTN) XP_011510032.1:p.Glu18605Ter
XM_011511731.1:c.55672G>T (TTN) XP_011510033.1:p.Glu18558Ter
XM_017004819.1:c.81715G>T (TTN) XP_016860308.1:p.Glu27239Ter
XM_017004820.1:c.77113G>T (TTN) XP_016860309.1:p.Glu25705Ter
XM_017004821.1:c.77110G>T (TTN) XP_016860310.1:p.Glu25704Ter
XM_017004822.1:c.74152G>T (TTN) XP_016860311.1:p.Glu24718Ter
XM_017004823.1:c.55768G>T (TTN) XP_016860312.1:p.Glu18590Ter
XM_024453094.1:c.77263G>T (TTN) XP_024308862.1:p.Glu25755Ter
XM_024453095.1:c.77260G>T (TTN) XP_024308863.1:p.Glu25754Ter
XM_024453096.1:c.76693G>T (TTN) XP_024308864.1:p.Glu25565Ter
XM_024453097.1:c.74035G>T (TTN) XP_024308865.1:p.Glu24679Ter
XM_024453098.1:c.73954G>T (TTN) XP_024308866.1:p.Glu24652Ter
XM_024453099.1:c.55717G>T (TTN) XP_024308867.1:p.Glu18573Ter
XM_024453100.1:c.45571G>T (TTN) XP_024308868.1:p.Glu15191Ter